A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604982



Internal ID21553287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18854471..18854471hg38UCSC Ensembl
chr2:19035737..19035737hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110868
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604982
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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